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Fig. 3 | BMC Medical Genetics

Fig. 3

From: First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

Fig. 3

Functional studies of the wild-type and mutant FSHR. COS-7 cells were transfected with empty (mock) or expression vector encoding WT and/or mutated receptor. COS-7 cells were transfected with empty (mock) or expression vector encoding WT and/or mutated receptor. a Cyclic AMP (cAMP) level observed in transfected cells in the absence of any hormonal stimulation. Graph represents the results of at least three separate experiments performed in duplicate conditions. b and c Transfected cells were incubated with increasing concentrations of human follicle-stimulating hormone (FSH) and the accumulation of cAMP was measured. Each graph represents the results (mean ± SEM) of at least two separate experiments. d Cell surface expression of WT and mutated FSHRs. Permeabilized (P) or nonpermeabilized (NP) transfected cells were incubated with the FSHR323 antibody. Confocal microscopy was used to study the cellular distribution of receptors. e The membrane expression of the FSHR R634H is decreased. COS-7 cells were transfected with WT or mutated FSHR. Immunoprecipitation of FSHR from total extract (total) or from cell surface (surface) was performed using FSHR323. Immunoprecipitated FSHR was analyzed by western-blotting. Size of the molecular mass is indicated

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